Thoracic aortic aneurysm and dissection

Gene: ELN

Green List (high evidence)

ELN (elastin)
EnsemblGeneIds (GRCh38): ENSG00000049540
EnsemblGeneIds (GRCh37): ENSG00000049540
OMIM: 130160, Gene2Phenotype
ELN is in 13 panels

9 reviews

Kate Thomson (Oxford University Hospitals Foundation Trust)

Green List (high evidence)

Submitted on behalf of the GMS Cardiology specialist group. This gene did not achieve a consensus Green rating; however, the group agreed that the existing evidence (published and in-house data) was sufficient to support inclusion in this panel.
Created: 9 Dec 2019, 1:19 p.m. | Last Modified: 9 Dec 2019, 1:19 p.m.
Panel Version: 0.55

Ivone Leong (Genomics England Curator)

I don't know

Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Amber on this panel.
Created: 18 Nov 2019, 4:33 p.m. | Last Modified: 18 Nov 2019, 4:33 p.m.
Panel Version: 0.35

James Eden (Manchester)

I don't know

Gene not currently tested on Manchester TAAD panel. Amber list (i.e. non-core) seems most appropriate for this gene.
Created: 25 Sep 2019, 9:21 a.m. | Last Modified: 25 Sep 2019, 9:21 a.m.
Panel Version: 0.30

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Cutis laxa, autosomal dominant 123700; Supravalvar aortic stenosis 185500

Publications

Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)

I don't know

On CGGL Royal Brompton panel currently. Definitively associated with cutis laxa and SVAS, and some evidence that also associated with aortic aneurysm (PMID: 16085695), although association is rare. Moderate, but not hot high level of evidence for inclusion, on FTAAD panel.
Created: 18 Sep 2019, 2:42 p.m. | Last Modified: 18 Sep 2019, 2:42 p.m.
Panel Version: 0.30

Phenotypes
OMIM: 123700 Cutis Laxa; 185500 supravalvar aortic stenosis

Variants in this GENE are reported as part of current diagnostic practice

Rebecca Whittington (South West GLH)

Green List (high evidence)

123700 Cutis Laxa; 185500 supravalvar aortic stenosis; well characterised gene
Created: 25 Mar 2019, 4:30 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Variants in this GENE are reported as part of current diagnostic practice

Rebecca Foulger (Genomics England curator)

Note that the link for the Canadian TAAD gene panel mentioned in Caroline's review is now at: http://sgm.med.usherbrooke.ca/index.php/en/services-en/cardiogenetics/taad
Created: 3 Jul 2017, 8:40 a.m.
PMID:16085695 (2006) report 2 cases: a family with autosomal dominant cutis laxa and a young girl with sporadic cutis laxa, both with variable expression of an aortic aneurysmal phenotype ranging from mild dilatation to severe aneurysm or aortic rupture.
Created: 29 Jun 2017, 11:50 a.m.

Caroline Wright (Genomics England Curator)

Comment when marking as ready: On Canadian non-profit TAAD gene panel: http://sherbrookegenomicmedicine.ca/index.php/en/services-en/cardiogenetics-en/taad-en
Created: 19 Feb 2016, 2:58 p.m.

Ellen McDonagh (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.
Created: 20 Feb 2019, 2:17 p.m.
On the Inherited Cardiac Condition Genes panel for Aortic valve disease reported in: Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes, Pua et al, Journal of Cardiovascular Translational Research, online Feb 2016 (doi:10.​1007/​s12265-016-9673-5). The panel contains disease-causing, putatively pathogenic, research and phenocopy genes, and it is unclear from the publication whether this gene falls into the disease-causing category. No. of mutations indicated in supplemental table = 8.
Created: 19 Feb 2016, 10:56 a.m.

Matina Prapa (Genomics England Curator)

Green List (high evidence)

See ref above- Aortic aneurysmal disease and cutis laxa caused by defects in the elastin gene
Created: 12 Feb 2016, 3:55 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
#123700- Cutis laxa, AD; #185500- Supravalvar aortic stenosis

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • South West GLH
  • London South GLH
  • South West GLH
  • London South GLH
Phenotypes
  • Supravalvar aortic stenosis, 185500
  • Cutis laxa, autosomal dominant, 123700
OMIM
130160
Clinvar variants
Variants in ELN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Dec 2019, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Green was added to ELN. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

18 Nov 2019, Gel status: 2

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: ELN were set to

18 Apr 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: ELN was added gene: ELN was added to GMS FTAAD placeholder panel. Sources: Expert Review Amber,London South GLH,South West GLH Mode of inheritance for gene: ELN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ELN were set to Supravalvar aortic stenosis, 185500; Cutis laxa, autosomal dominant, 123700